1. Bagni C, Zukin RS. {{A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders}}. {Neuron};2019 (Mar 20);101(6):1070-1088.
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS), autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are therefore classified as synaptopathies. FXS and ASDs, while clinically and genetically distinct, share significant comorbidity, suggesting that there may be a common molecular and/or cellular basis, presumably at the synapse. In this article, we review brain architecture and synaptic pathways that are dysregulated in FXS and ASDs, including spine architecture, signaling in synaptic plasticity, local protein synthesis, (m)RNA modifications, and degradation. mRNA repression is a powerful mechanism for the regulation of synaptic structure and efficacy. We infer that there is no single pathway that explains most of the etiology and discuss new findings and the implications for future work directed at improving our understanding of the pathogenesis of FXS and related ASDs and the design of therapeutic strategies to ameliorate these disorders.
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2. Baker BL, Blacher J. {{Brief Report: Behavior Disorders and Social Skills in Adolescents with Autism Spectrum Disorder: Does IQ Matter?}}. {J Autism Dev Disord};2019 (Mar 19)
Disruptive behavior disorders and social skills were assessed in 187 youth aged 13 years, with typical cognitive development (TD n = 98), intellectual disability (ID n = 37), autism spectrum disorder (ASD, IQ > = 85, n = 26), or Autism Spectrum Disorder with ID (ASD/ID; IQ < 85, n = 26). The primary question was whether youth with ASD and co-morbid ID had greater associated adjustment problems than youth with ASD-only. Youth with ASD, with or without ID, had significantly higher behavior problems and lower social skills than their TD peers. However, youth with ASD and co-morbid ID did not differ from youth with ASD-only on any variable assessed, including behavior problems, behavior disorders, social acceptance, social skills, and student teacher relationships. Lien vers le texte intégral (Open Access ou abonnement)
3. Bakian AV, VanDerslice JA. {{Pesticides and autism}}. {Bmj};2019 (Mar 20);364:l1149.
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4. Bangerter A, Ness S, Lewin D, Aman MG, Esbensen AJ, Goodwin MS, Dawson G, Hendren R, Leventhal B, Shic F, Opler M, Ho KF, Pandina G. {{Clinical Validation of the Autism Behavior Inventory: Caregiver-Rated Assessment of Core and Associated Symptoms of Autism Spectrum Disorder}}. {J Autism Dev Disord};2019 (Mar 19)
There is a need for measures to track symptom change in autism spectrum disorder (ASD). We conducted a validation study on a revised version of the Autism Behavior Inventory (ABI), and a short form (ABI-S). Caregivers of individuals (6-54 years) with confirmed diagnoses of ASD (N = 144) completed the ABI and other rating scales at 4 time points. Scale consistency for each domain, 3-5 day test-retest reliability, and construct validity, determined by comparison to pre-specified scales, were all good. Change in the ABI was congruent with changes in other instruments. Collectively, results suggest incipient suitability of the ABI as a measure of changes in core and associated symptoms of ASD.Trial Registration NCT02299700.
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5. Bradshaw J, Shic F, Holden AN, Horowitz EJ, Barrett AC, German TC, Vernon TW. {{The Use of Eye Tracking as a Biomarker of Treatment Outcome in a Pilot Randomized Clinical Trial for Young Children with Autism}}. {Autism Res};2019 (Mar 20)
There is a pressing need for objective, quantifiable outcome measures in intervention trials for children with autism spectrum disorder (ASD). The current study investigated the use of eye tracking as a biomarker of treatment response in the context of a pilot randomized clinical trial of treatment for young children with ASD. Participants included 28 children with ASD, aged 18-48 months, who were randomized to one of two conditions: Pivotal Response Intervention for Social Motivation (PRISM) or community treatment as usual (TAU). Eye-tracking and behavioral assessment of developmental functioning were administered at Time 1 (prior to randomization) and at Time 2 (after 6 months of intervention). Two well-established eye-tracking paradigms were used to measure social attention: social preference and face scanning. As a context for understanding relationships between social attention and developmental ability, we first examined how scanning patterns at Time 1 were associated with concurrent developmental functioning and compared to those of 23 age-matched typically developing (TD) children. Changes in scanning patterns from Time 1 to Time 2 were then compared between PRISM and TAU groups and associated with behavioral change over time. Results showed that the social preference paradigm differentiated children with ASD from TD children. In addition, attention during face scanning was associated with language and adaptive communication skills at Time 1 and change in language skills from Time 1 to Time 2. These findings highlight the importance of examining targeted biomarkers that measure unique aspects of child functioning and that are well-matched to proposed mechanisms of change. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Biomarkers have the potential to provide important information about how and why early interventions effect positive change for young children with ASD. The current study suggests that eye-tracking measures of social attention can be used to track change in specific areas of development, such as language, and points to the need for targeted eye-tracking paradigms designed to measure specific behavioral changes. Such biomarkers could inform the development of optimal, individualized, and adaptive interventions for young children with ASD.
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6. Chabeda-Barthe J, Wambua T, Chege WL, Hwaga D, Gakuo T, Rotich GC. {{Child Developmental Disabilities, Caregivers’ Role in Kenya and Its Implications on Global Migration}}. {Int J Environ Res Public Health};2019 (Mar 20);16(6)
Background: This paper is a summary of the findings from an ethnographic study on child developmental disabilities conducted partly in Nairobi and Kiambu Counties in Kenya. Methods: Quantitative and qualitative data collection methods were applied for the period between mid August and mid November 2018. The study was conducted through the Kenya Institute of Special Education (KISE) situated in Nairobi County. Results: There are parents who are willing to migrate in search of better education and healthcare options for their children who have developmental disabilities (DDs). However, there are also government reforms taking place in the field of disability that may help to support the caregiving role for children with special needs. The challenges, bargaining position and power play between parents or guardians and other actors implicated in the debates on inclusion and integration of persons with developmental disabilities in Kenya has been brought to the forefront. Conclusions: In Kenya, more needs to be done to change the attitude towards disability from the medical and moral (religious/cultural) models to an approach leaning towards the social model, so that developmental disabilities are not viewed negatively.
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7. Falk D. {{Non-complicit: Revisiting Hans Asperger’s Career in Nazi-era Vienna}}. {J Autism Dev Disord};2019 (Mar 18)
Recent allegations that pediatrician Hans Asperger legitimized Nazi policies, including forced sterilization and child euthanasia, are refuted with newly translated and chronologically-ordered information that takes into account Hitler’s deceptive ‘halt’ to the T4 euthanasia program in 1941. It is highly unlikely that Asperger was aware of the T4 program when he referred Herta Schreiber to Am Spiegelgrund or when he mentioned that institution 4 months later on the medical chart of another (unrelated) girl, Elisabeth Schreiber. Asperger campaigned vigorously from 1938 to 1943 to have his specialization, Curative Education, take priority in the diagnosis and treatment of disabled children over other fields that promoted Nazi racial hygiene policies. He neither disparaged his patients nor was he sexist. By 1938, he had identified the essentials of Asperger syndrome and described an unnamed boy whom he later profiled (as Ernst K.) in 1944. Rather than doing ‘thin’ research, Asperger made discoveries that were prescient, and some of his activities conformed to definitions of « individual resistance. »
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8. Healy S, Aigner CJ, Haegele JA, Patterson F. {{Meeting the 24-hr movement guidelines: An update on US youth with autism spectrum disorder from the 2016 National Survey of Children’s Health}}. {Autism Res};2019 (Mar 20)
The purpose of this study was to examine how adherence to the physical activity (PA), screen-time (ST), and sleep duration guidelines differ between youth with autism spectrum disorder (ASD) and youth with typical development (TD). A secondary objective was to assess how PA, ST, and sleep duration varied among youth with ASD by age and ASD severity. Utilizing the 2016 National Survey of Children’s Health data, parental reports of time spent by youth in PA, ST, and sleep were used to determine adherence to the 24-hr movement guidelines for 1008 youth with ASD and 34 489 youth with TD. Multivariate logistic regression analyses determined that children with ASD were less likely to meet the guidelines for PA, ST, and sleep duration, and adolescents with ASD were less likely to meet the guidelines for PA and ST than participants with TD. Furthermore, logistic regression analyses determined adolescents with severe ASD to be less likely to meet the sleep guideline compared to adolescents with mild ASD. Overall, youth with ASD were significantly less likely to adhere to all three guidelines. The findings highlight the breadth of health behaviors that require intervention to counteract the poorer health status among youth with ASD. Autism Res 2019, 00: 1-11. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: New health recommendations suggest children and adolescents should have at least 1 hr of physical activity, no more than 2 hr of screen-time (e.g., television), and 9-11 hr of sleep (or 8-10 hr for children aged 14 or older) every day. This article looked at how children and adolescents with autism meet these new guidelines. The two main results were that: (a) children with autism were less likely to meet all three guidelines compared to children without autism, and (b) adolescents with autism were less likely to meet the guidelines for physical activity and screen-time.
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9. Imm P, White T, Durkin MS. {{Assessment of racial and ethnic bias in autism spectrum disorder prevalence estimates from a US surveillance system}}. {Autism};2019 (Mar 20):1362361319827510.
This study assessed potential under-ascertainment of autism spectrum disorder due to missing administrative information for Hispanic and non-Hispanic Black children within the Autism and Developmental Disabilities Monitoring Network. We analyzed data from two Network sites (Colorado and Wisconsin) for surveillance years 2012 and 2014 to determine whether children excluded from autism spectrum disorder prevalence estimates due to missing residency and other information differed from those included by race and ethnicity. We used multiple approaches to impute missing information to evaluate impacts on racial and ethnic disparities in autism spectrum disorder prevalence. Compared with confirmed autism spectrum disorder cases, those excluded due to missing residency were more than twice as likely to be Hispanic (19% vs 44%; p < 0.002), yet the number of cases excluded due to missing residency information was too small to account for prevalence differences. Confirmation of autism spectrum disorder case status was more likely for children with relevant health records than for those with school records only. Moreover, relevant health records were more likely to be missing for Black and Hispanic children than for White children. Observed disparities in autism spectrum disorder prevalence were not accounted for by missing demographic data, but may reflect disparities in healthcare access for developmental evaluations. Lien vers le texte intégral (Open Access ou abonnement)
10. Isabel BM, Ireri DM, Monica MM, Octavio G, Daniel GC, Aliesha GA. {{Dendritic complexity in prefrontal cortex and hippocampus of the autistic-like mice C58/J}}. {Neurosci Lett};2019 (Mar 15)
Autism spectrum disorder (ASD) has been associated to atypical neuronal connectivity in the prefrontal cortex (PFC) and the hippocampus, in part, due to an alteration in neuroplasticity processes such as dendritic remodeling. Moreover, it has been proposed that abnormal cytoskeletal dynamics might be underlying the disrupted formation and morphology of dendrites in the ASD brain. Hence, we performed an analysis of the complexity of dendritic arborization of the pyramidal neurons localized in the layer II/III of the PFC and the CA1 region of the hippocampus in the autistic-like mouse strain C58/J, which has previously demonstrated neuronal cytoskeleton anomalies. We found differences in length, number and branching pattern of dendrites of the pyramidal neurons from both structures of C58/J strain. These data suggest a lower dendritic arborization complexity that could be involved with the characteristic autistic-like behaviors displayed in C58/J mice.
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11. Kozikowski AP, Shen S, Pardo M, Tavares MT, Szarics D, Benoy V, Zimprich CA, Kutil Z, Zhang G, Barinka C, Robers MB, Van Den Bosch L, Eubanks JH, Jope RS. {{Brain Penetrable Histone Deacetylase 6 Inhibitor SW-100 Ameliorates Memory and Learning Impairments in a Mouse Model of Fragile X Syndrome}}. {ACS Chem Neurosci};2019 (Mar 20);10(3):1679-1695.
Disease-modifying therapies are needed for Fragile X Syndrome (FXS), as at present there are no effective treatments or cures. Herein, we report on a tetrahydroquinoline-based selective histone deacetylase 6 (HDAC6) inhibitor SW-100, its pharmacological and ADMET properties, and its ability to improve upon memory performance in a mouse model of FXS, Fmr1(-/-) mice. This small molecule demonstrates good brain penetrance, low-nanomolar potency for the inhibition of HDAC6 (IC50 = 2.3 nM), with at least a thousand-fold selectivity over all other class I, II, and IV HDAC isoforms. Moreover, through its inhibition of the alpha-tubulin deacetylase domain of HDAC6 (CD2), in cells SW-100 upregulates alpha-tubulin acetylation with no effect on histone acetylation and selectively restores the impaired acetylated alpha-tubulin levels in the hippocampus of Fmr1(-/-) mice. Lastly, SW-100 ameliorates several memory and learning impairments in Fmr1(-/-) mice, thus modeling the intellectual deficiencies associated with FXS, and hence providing a strong rationale for pursuing HDAC6-based therapies for the treatment of this rare disease.
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12. Lalive d’Epinay Raemy S, Paignon A. {{Providing equity of care for patients with intellectual and developmental disabilities in Western Switzerland: a descriptive intervention in a University Hospital}}. {Int J Equity Health};2019 (Mar 18);18(1):46.
BACKGROUND: The purpose of this article is to describe an interventional project in a University Hospital. It explains the adjustments that were made to provide good care for patients with intellectual and developmental disabilities in an acute care setting in Western Switzerland. It is not the exposition of the results of a formalised research or study. Rather, this article relates the success story of a project initiated by a small group of passionate people on their free time, that eventually entered in the 2020 strategic planning of the largest hospital of Switzerland. Switzerland does not have a national policy regarding health needs for patients with intellectual and developmental disabilities. Health care professionals are not trained to identify and meet the specific health needs of this population and little is taught about intellectual and developmental disabilities during undergraduate studies. METHOD: The Disability Project was conducted between 2012 and 2017 in Geneva University Hospital, as follows: Firstly, over sixty working group sessions took place to identify the specific health needs of people with intellectual and developmental disabilities, to identify the barriers to providing equity of care and to prioritize reasonable adjustments. The four following barriers emerged from these meetings: 1. Lack of awareness of healthcare professionals on specific health issues for patients with intellectual and developmental disabilities, which resulted in a poor healthcare coordination and reduced quality of care. 2. Communication and information transmission issues between hospital staff, families and supported residential accommodations. 3. Lack of training or insufficient training of healthcare professionals and hospital staff on intellectual and developmental disabilities. 4. Inaccessibility of the hospital facilities and buildings for patients with disabilities Secondly, arising from these priorities, interventions were developed. FINDINGS: The interventions were eventually applied throughout the hospital. Recommendations and reasonable adjustments were made to provide accessibility and equity of care for patients with intellectual and developmental disabilities. CONCLUSION: The Disability Project has achieved many reasonable adjustments in an acute care setting to provide good care and satisfaction for this population and their families.
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13. Lee BK, Gross R, Francis RW, Karlsson H, Schendel DE, Sourander A, Reichenberg A, Parner ET, Hornig M, Yaniv A, Leonard H, Sandin S. {{Birth seasonality and risk of autism spectrum disorder}}. {Eur J Epidemiol};2019 (Mar 20)
Season of birth has been hypothesized to be a risk factor for autism spectrum disorder (ASD). However, the evidence has been mixed and limited due to methodological challenges. We examine ASD birth trends for 5,464,628 births across 5 countries. ASD birth prevalence data were obtained from the International Collaboration for Autism Registry Epidemiology database, including children born in Denmark, Finland, Norway, Sweden, and Western Australia. Empirical mode decomposition and cosinor modeling were used to assess seasonality. We show seasonal variation in ASD births for the countries of Finland and Sweden. There was a modest increase in risk for children born in the fall and a modest decrease in risk for children born in the spring. Solar radiation levels around conception and the postnatal period were inversely correlated with seasonal trends in ASD risk. In the first multinational study of birth seasonality of ASD, there was evidence supporting the presence of seasonal trends in Finland and Sweden. The observations that risk was highest for fall births (i.e., conceived in the winter) and lowest for spring births (i.e., conceived in the summer), and sunlight levels during critical neurodevelopmental periods explained much of the seasonal trends, are consistent with the hypothesis that a seasonally fluctuating risk factor may influence risk of ASD.
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14. Lee GK, Krizova K, Shivers CM. {{Needs, strain, coping, and mental health among caregivers of individuals with autism spectrum disorder: A moderated mediation analysis}}. {Autism};2019 (Mar 20):1362361319833678.
This study investigated the relationships among caregiving strain, coping, and mental health among caregivers of individuals with autism spectrum disorder (ASD) and the mediational moderation of caregiver needs. One hundred and ninety-three caregivers of individuals with ASD completed an online survey. Results showed that maladaptive coping behaviors were significant in mediating the relationship between strain and mental health. Professional service and emotional caregiving needs moderated the relationship between maladaptive coping and mental health at times of high caregiving strain, but not involvement, health information, and instrumental support needs. Results highlighted the negative effect of maladaptive coping, as well as professional service and emotional support needs were salient in moderating coping and mental health in times of high caregiving strain.
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15. Li X, An Z, Li Q, Shi C, Zhang J, Kang J. {{[Weighted multiple multiscale entropy and its application in electroencephalography analysis of autism assessment]}}. {Sheng Wu Yi Xue Gong Cheng Xue Za Zhi};2019 (Feb 25);36(1):33-39.
In this paper, a feature extraction algorithm of weighted multiple multiscale entropy is proposed to solve the problem of information loss which is caused in the multiscale process of traditional multiscale entropy. Algorithm constructs the multiple data sequences from large to small on each scale. Then, considering the different contribution degrees of multiple data sequences to the entropy of the scale, the proportion of each sequence in the scale sequence is calculated by combining the correlation between the data sequences, so as to reconstruct the sample entropy of each scale. Compared with the traditional multiscale entropy the feature extraction algorithm based on weighted multiple multiscale entropy not only overcomes the problem of information loss, but also fully considers the correlation of sequences and the contribution to total entropy. It reduces the fluctuation between scales, and digs out the details of electroencephalography (EEG). Based on this algorithm, the EEG characteristics of autism spectrum disorder (ASD) children are analyzed, and the classification accuracy of the algorithm is increased by 23.0%, 10.4% and 6.4% as compared with the EEG extraction algorithm of sample entropy, traditional multiscale entropy and multiple multiscale entropy based on the delay value method, respectively. Based on this algorithm, the 19 channel EEG signals of ASD children and healthy children were analyzed. The results showed that the entropy of healthy children was slightly higher than that of the ASD children except the FP2 channel, and the numerical differences of F3, F7, F8, C3 and P3 channels were statistically significant ( P<0.05). By classifying the weighted multiple multiscale entropy of each brain region, we found that the accuracy of the anterior temporal lobe (F7, F8) was the highest. It indicated that the anterior temporal lobe can be used as a sensitive brain area for assessing the brain function of ASD children. Lien vers le texte intégral (Open Access ou abonnement)
16. Liu CT, Chen LM. {{Comprehending conjunctive entailment of disjunction among individuals with Asperger syndrome}}. {Clin Linguist Phon};2019 (Mar 20):1-15.
Although individuals with Asperger syndrome (AS) are often described to be semantic-pragmatic disordered, it is still unclear to what extent their semantic comprehension is impaired. The primary goal of this study is to understand the sentence comprehension of adults with AS by investigating their reading processes of sentences involving the conjunctive entailment of disjunction. More specifically, their on-line processes of reading globally ambiguous sentences containing huo ‘or’ in Mandarin Chinese, which can be understood as either a conjunction or a disjunction in simple negative statements, were recorded. The results indicated that both AS and typically developing groups tended to interpret the ambiguous huo as a conjunction. Additionally, both groups consistently spent significantly more time judging the appropriateness of disjunction-biased sentences. It is argued that, for adults with AS, at least some aspects of semantic knowledge are intact. Future studies are suggested to focus on different sentence types to further explore to what extent that semantics is impaired among individuals with AS.
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17. Maddox BB, Rump KM, Stahmer AC, Suhrheinrich J, Rieth SR, Nahmias AS, Nuske HJ, Reisinger EM, Crabbe SR, Bronstein B, Mandell DS. {{Concordance between a U.S. Educational Autism Classification and the Autism Diagnostic Observation Schedule}}. {J Clin Child Adolesc Psychol};2019 (Mar 20):1-7.
States in the United States differ in how they determine special education eligibility for autism services. Few states include an autism-specific diagnostic tool in their evaluation. In research, the Autism Diagnostic Observation Schedule (ADOS for first edition, ADOS-2 for second edition) is considered the gold-standard autism assessment. The purpose of this study was to estimate the proportion of children with an educational classification of autism who exceed the ADOS/ADOS-2 threshold for autism spectrum (concordance rate). Data were drawn from 4 school-based studies across 2 sites (Philadelphia, Pennsylvania, and San Diego, California). Participants comprised 627 children (2-12 years of age; 83% male) with an autism educational classification. Analyses included (a) calculating the concordance rate between educational and ADOS/ADOS-2 classifications and (b) estimating the associations between concordance and child’s cognitive ability, study site, and ADOS/ADOS-2 administration year using logistic regression. More San Diego participants (97.5%, all assessed with the ADOS-2) met ADOS/ADOS-2 classification than did Philadelphia participants assessed with the ADOS-2 (92.2%) or ADOS (82.9%). Children assessed more recently were assessed with the ADOS-2; this group was more likely to meet ADOS/ADOS-2 classification than the group assessed longer ago with the ADOS. Children with higher IQ were less likely to meet ADOS/ADOS-2 classification. Most children with an educational classification of autism meet ADOS/ADOS-2 criteria, but results differ by site and by ADOS version and/or recency of assessment. Educational classification may be a reasonable but imperfect measure to include children in community-based trials.
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18. Morton HE, Gillis JM, Mattson RE, Romanczyk RG. {{Conceptualizing bullying in children with autism spectrum disorder: Using a mixed model to differentiate behavior types and identify predictors}}. {Autism};2019 (Mar 19):1362361318813997.
Children with autism spectrum disorder experience bullying more frequently than their typical peers. Inconsistent definitions for and imprecise measurement of bullying in the literature impede a better understanding of this difference, and multiple types of bullying topographies create additional dimensions for analysis. In this study, participants rated the severity of bullying depicted in written vignettes of child-dyadic interactions. The vignettes varied across child age (4-15 years old) and described either one of four different types of bullying or non-bullying behavior. Participants included teachers and parents of children with autism spectrum disorder and community members without an autism spectrum disorder child. Participants’ severity ratings of vignettes that described bullying differed by bullying type (i.e. verbal, physical, cyber, and interpersonal). Multilevel modeling revealed that bullying severity ratings are impacted by the age of children in the vignette, being a community member without children, and other demographic variables. These findings have implications for research methodology, assessment, and conceptualization of bullying in typical children as well as those with autism spectrum disorder.
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19. Ozonoff S, Iosif AM. {{Changing Conceptualizations of Regression: What Prospective Studies Reveal About the Onset of Autism Spectrum Disorder}}. {Neurosci Biobehav Rev};2019 (Mar 15)
Until the last decade, studies of the timing of early symptom emergence in autism spectrum disorder (ASD) relied upon retrospective methods. Recent investigations, however, are raising significant questions about the accuracy and validity of such data. Questions about when and how behavioral signs of autism emerge may be better answered through prospective studies, in which infants are enrolled near birth and followed longitudinally until the age at which ASD can be confidently diagnosed or ruled out. This review summarizes the results of recent studies that utilized prospective methods to study infants at high risk of developing ASD due to family history. Collectively, prospective studies demonstrate that the onset of ASD involves declines in the rates of key social and communication behaviors during the first years of life for most children. This corpus of literature suggests that regressive onset patterns occur much more frequently than previously recognized and may be the rule rather than the exception.
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20. Sapey-Triomphe LA, Leiros Costa T, Wagemans J. {{Sensory sensitivity in autism mostly depends on contextual predictions}}. {Cogn Neurosci};2019 (Mar 20):1-2.
A signal detection theory was elaborated in order to account for three types of sensory sensitivity (subjective, behavioral and neural) in neurotypical individuals and in autism. Here, we argue that the predictive coding framework could better account for the atypical pattern of sensory sensitivity in autism. We review the idea that sensory sensitivity should be considered as mostly depending on contextual predictions and that these account for the heterogeneous pattern of neural responses.
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21. Sun MW, Gupta A, Varma M, Paskov KM, Jung JY, Stockham NT, Wall DP. {{Coalitional Game Theory Facilitates Identification of Non-Coding Variants Associated With Autism}}. {Biomed Inform Insights};2019;11:1178222619832859.
Studies on autism spectrum disorder (ASD) have amassed substantial evidence for the role of genetics in the disease’s phenotypic manifestation. A large number of coding and non-coding variants with low penetrance likely act in a combinatorial manner to explain the variable forms of ASD. However, many of these combined interactions, both additive and epistatic, remain undefined. Coalitional game theory (CGT) is an approach that seeks to identify players (individual genetic variants or genes) who tend to improve the performance-association to a disease phenotype of interest-of any coalition (subset of co-occurring genetic variants) they join. This method has been previously applied to boost biologically informative signal from gene expression data and exome sequencing data but remains to be explored in the context of cooperativity among non-coding genomic regions. We describe our extension of previous work, highlighting non-coding chromosomal regions relevant to ASD using CGT on alteration data of 4595 fully sequenced genomes from 756 multiplex families. Genomes were encoded into binary matrices for three types of non-coding regions previously implicated in ASD and separated into ASD (case) and unaffected (control) samples. A player metric, the Shapley value, enabled determination of individual variant contributions in both sets of cohorts. A total of 30 non-coding positions were found to have significantly elevated player scores and likely represent significant contributors to the genetic coordination underlying ASD. Cross-study analyses revealed that a subset of mutated non-coding regions (all of which are in human accelerated regions (HARs)) and related genes are involved in biological pathways or behavioral outcomes known to be affected in autism, suggesting the importance of single nucleotide polymorphisms (SNPs) within HARs in ASD. These findings support the use of CGT in identifying hidden yet influential non-coding players from large-scale genomic data, to better understand the precise underpinnings of complex neurodevelopmental disorders such as autism.
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22. von Ehrenstein OS, Ling C, Cui X, Cockburn M, Park AS, Yu F, Wu J, Ritz B. {{Prenatal and infant exposure to ambient pesticides and autism spectrum disorder in children: population based case-control study}}. {Bmj};2019 (Mar 20);364:l962.
OBJECTIVE: To examine associations between early developmental exposure to ambient pesticides and autism spectrum disorder. DESIGN: Population based case-control study. SETTING: California’s main agricultural region, Central Valley, using 1998-2010 birth data from the Office of Vital Statistics. POPULATION: 2961 individuals with a diagnosis of autism spectrum disorder based on the Diagnostic and Statistical Manual of Mental Disorders, fourth edition, revised (up to 31 December 2013), including 445 with intellectual disability comorbidity, were identified through records maintained at the California Department of Developmental Services and linked to their birth records. Controls derived from birth records were matched to cases 10:1 by sex and birth year. EXPOSURE: Data from California state mandated Pesticide Use Reporting were integrated into a geographic information system tool to estimate prenatal and infant exposures to pesticides (measured as pounds of pesticides applied per acre/month within 2000 m from the maternal residence). 11 high use pesticides were selected for examination a priori according to previous evidence of neurodevelopmental toxicity in vivo or in vitro (exposure defined as ever v never for each pesticide during specific developmental periods). MAIN OUTCOME MEASURE: Odds ratios and 95% confidence intervals using multivariable logistic regression were used to assess associations between pesticide exposure and autism spectrum disorder (with or without intellectual disabilities) in offspring, adjusting for confounders. RESULTS: Risk of autism spectrum disorder was associated with prenatal exposure to glyphosate (odds ratio 1.16, 95% confidence interval 1.06 to 1.27), chlorpyrifos (1.13, 1.05 to 1.23), diazinon (1.11, 1.01 to 1.21), malathion (1.11, 1.01 to 1.22), avermectin (1.12, 1.04 to 1.22), and permethrin (1.10, 1.01 to 1.20). For autism spectrum disorder with intellectual disability, estimated odds ratios were higher (by about 30%) for prenatal exposure to glyphosate (1.33, 1.05 to 1.69), chlorpyrifos (1.27, 1.04 to 1.56), diazinon (1.41, 1.15 to 1.73), permethrin (1.46, 1.20 to 1.78), methyl bromide (1.33, 1.07 to 1.64), and myclobutanil (1.32, 1.09 to 1.60); exposure in the first year of life increased the odds for the disorder with comorbid intellectual disability by up to 50% for some pesticide substances. CONCLUSION: Findings suggest that an offspring’s risk of autism spectrum disorder increases following prenatal exposure to ambient pesticides within 2000 m of their mother’s residence during pregnancy, compared with offspring of women from the same agricultural region without such exposure. Infant exposure could further increase risks for autism spectrum disorder with comorbid intellectual disability.
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23. Welsh P, Rodgers J, Honey E. {{Teachers’ perceptions of Restricted and Repetitive Behaviours (RRBs) in children with ASD: Attributions, confidence and emotional response}}. {Res Dev Disabil};2019 (Mar 16);89:29-40.
BACKGROUND: Restricted and Repetitive Behaviours (RRBs) are some of the most difficult behaviours to manage in children with Autism Spectrum Disorders (ASD). Although RRBs frequently occur in educational settings, we know little about the way in which teachers understand these behaviours. AIMS: The study aimed to explore the attributions, emotional response and feelings of confidence held by teachers working in different educational settings when faced with RRBs. METHODS AND PROCEDURES: A single group survey design using behavioural vignettes was adopted in order to elicit teacher beliefs and ratings. OUTCOMES AND RESULTS: Analysis indicated that there were differences in the attributions and confidence ratings held for different types of RRBs. Significant differences were also observed between teachers working in mainstream and specialist educational settings. Emotional response and confidence scores were often predictive of one another alongside factors related to teaching experience. CONCLUSION AND IMPLICATIONS: The findings indicate that teachers from mainstream schools potentially hold less helpful beliefs in response to RRBs and therefore are a professional group who may benefit the most from additional support and training. Further research could consider conducting a qualitative exploration of why teachers hold certain beliefs about RRBs and/or sampling those who are less experienced in working with children with ASD.
